Familial deletion 18p syndrome: case report

Area of Science:

• Genetics
• Pediatrics
• Clinical Medicine

Background:

• 18p deletion syndrome is a recognized genetic disorder associated with characteristic physical features and intellectual disability.
• Previous reports on 18p deletion syndrome families are limited, with a general observation of poorer verbal performance in affected individuals.

Observation:

• This study details the maternal transmission of 18p deletion (46, XX, del(18)(p11.2)) from a mother to her two daughters.
• The affected mother and daughters exhibit short stature and dysmorphic features, with varying degrees of cognitive impairment.
• Unlike previous reports, this family does not show a consistent pattern of poorer verbal compared to non-verbal abilities.

Findings:

• The observed cognitive impairments ranged from borderline to moderate mental retardation, indicating variability within the syndrome.
• Maternal inheritance was confirmed, consistent with previous familial observations of 18p deletion syndrome.
• Fertility in women with 18p deletion and typical miscarriage rates were noted.

Implications:

• Genetic counseling for 18p deletion syndrome requires acknowledging a wider spectrum of cognitive outcomes.
• Further research is needed to understand the genetic and environmental factors influencing cognitive variability in 18p deletion syndrome.
• This case highlights the importance of detailed family history and comprehensive genetic analysis in diagnosing and managing deletion 18p syndrome.